77 Case series of juvenile scleroderma from Nigeria

Abstract Background The word scleroderma means ‘hard skin’ that develops due to excessive accumulation of collagen. It is the third most frequent rheumatic disease in paediatric rheumatology after juvenile idiopathic arthritis and systemic lupus erythematosus. When it occurs in individual <16 years, it is called juvenile scleroderma. It is a rare disease that occurs in one per million children, documented to be more common in African adults with poorer survival states compared with Caucasians. Objectives To describe the clinical and laboratory characteristics of children with juvenile scleroderma seen in our clinic, thus, increasing its awareness. Methods Retrospective review of records of three children diagnosed with juvenile scleroderma at the paediatric Rheumatology Clinic of Lagos State University Teaching Hospital(LASUTH) between May 2018 to April 2022. Results Case 1 A 12-year-old girl presented with skin tightness of the left hand and thigh of one year, contracture of the 3rd, 4th and 5th proximal interphalangeal joints, arthritis of the left wrist, skin induration of the dorsum of the left hand involving the 4th and 5th finger and extending to the wrist and skin and induration of the anterolateral aspect of the left thigh. Her blood tests showed an erythrocyte sedimentation rate (ESR) at 20 mm/h, an ANA titre of 1:2560, a negative anti-Scl 70/anti-centromere antibodies, a normal complete blood count and serum electrolytes/urea/creatinine. A diagnosis of linear scleroderma was made, the patient had prednisolone, methotrexate and folic acid, in addition to topical emollients. She improved clinically as observed during follow up visits six weeks after initiation of treatment but later defaulted from the clinic due to unknown reason. Case 2 A 4-year-old girl presented with constitutional symptoms, swollen hands and feet, sclerodactyly, narrowing of oral aperture, ulcers at tips of the fingers, inflammatory pain of the large joints, hypopigmented macules on the face, trunk, abdomen and back and also abnormal capillaroscopy. Erythrocyte sedimentation rate was 22 mm/h with normal levels of electrolytes/urea/creatinine, thrombocytosis, ANA titre of 1:640 and negative anti-centromere and anti-U1RNP antibodies. A diagnosis of diffuse systemic sclerosis was made. She started prednisolone, methotrexate, nifedipine and omeprazole and was asked to do an ECG, an Echocardiogram, a spirometry and a chest HRCT but she couldn’t afford to do these investigations due to severe financial constraints. She was clinically stable for four months until she presented at the emergency room with sudden loss of consciousness and congestive cardiac failure. She died during resuscitation attempt. Case 3 An 11-year-old girl known patient of haematology unit with sickle cell anaemia, presented with inflammatory arthritis of the small joints of the hands, elbows and knees of nine-month duration, sclerodactyly, contractures of the PIP of the fingers, narrowing of oral aperture, generalized hypopigmented macules and abnormal nailfold capillaroscopy. Investigation showed an ANA titre of 1:640, positive anti-Scl 70 antibodies, negative anti-centromere antibodies, ESR of 130 mm/h and thrombocytosis. The echocardiogram showed a normally structured heart with severe restriction on spirometry and features of interstitial lung disease on HRCT of the chest. She started mycophenolate mofetil, prednisolone and nifedipine. She later received 2 doses of rituximab due to slow clinical improvement. She is being followed up. Conclusion Most data on scleroderma are from adult studies, we reported these three cases due to the rare occurrence of scleroderma in children, thus increasing its awareness.


Background
Hereditary angioedema (HAE) can present with a wide spectrum of clinical symptoms, including articular features like the compartment syndrome.

Objective
We present the peculiar case of a young female patient suffering from this rare complement system disorder and presenting as a « wrist oedema ». Methods A 14-year-old girl was admitted in the emergency room during a night shift. She presented with acute compartment (wrist) syndrome due to edematous compression of the median nerve, associated with a typical personal history of HAE. It resolved within 6 h with IV steroids and hyperhydration. The quantitative and qualitative C1 INH esterase returning negative, the diagnosis of HAE type III was made. The patient was treated with long-term treatment based on Danazol, (the most frequently prescribed attenuated androgen to treat HAE). Results HAE is due to the deficiency or dysfunction of the C1 inhibitor protein (quantitative or qualitative deficiency). A new nomenclature has replaced the initial use of denominations HAE type 1, 2 or 3; to speak rather of HAE with a deficient C1 inhibitor (type 1), with a dysfunctional C1 inhibitor (type 2) or with a normal C1 inhibitor (type 3) Type 3 HAE is rare and difficult to treat. It may respond to antiestrogenic drugs such as progestins and especially to androgens; specific (very expensive) molecules do exist and act directly on the bradykinin pathways Conclusion A compartment syndrome may reveal extremely rare conditions such as hereditary angioedema. Early recognition and management are the guarantee of a preserved functional prognosis. Background Systemic scleroderma (SSc) is a rare generalized connective tissue disorder of poorly understood aetiology resulting in systemic fibrosis. It affects mainly women, usually in adulthood, but can occur at any age, although it is rare in children. Its prognosis is conditioned by cardiopulmonary involvement, which is the primary cause of mortality. Some innovative therapies have improved the management of this orphan disease. We report an observation of a 14-year-old child with systemic scleroderma. Observation Child B.Z, 14 years old, without any particular history, consulted for a Raynaud's phenomenon that had appeared 4 months earlier. Clinical examination reveals localized skin sclerosis on the face and extremities of the upper limbs (Rodnan score ¼ 11), associated with inflammatory-type arthralgias. Biologically: SV ¼ 38 mmH1, CRP ¼ 87 mg/l, FAN at 1/320 and positive Anti-Scl70. Periungual capillaroscopy showed megacapillaries with altered capillary architecture. The frontal chest X-ray did not reveal any interstitial syndrome, the cardiac ultrasound was without abnormalities (no PAH). The diagnosis of SSc was retained, the patient was put on calcium channel blockers (Diltiazem at a dose of 120 mg/d) associated with dietary rules and NSAIDs on demand with good improvement. Conclusion Very few cases of juvenile SSc have been reported in the literature. Its diagnosis should be based on the same ACR-EULAR 2013 criteria as those for adults. Its prognosis is conditioned by visceral damage which must be diagnosed and treated early.

Background
Osteogenesis imperfecta, or ''glass bone disease'', is a rare genetic disorder due to an abnormality in the production of type 1 collagen. It is characterised by bone fragility and low bone mass, leading to repeated fractures. Osteogenesis imperfecta (OI) can be classified into several types ranging from lethal at birth to benign forms that may be discovered incidentally in adulthood. We report four observations of OI that caught our attention. Observation 1: Mr H.A, aged 15 years, with no particular pathological history (atcd), he presented since the age of 4 years old iterative lowenergy fractures (06 fractures). The clinical examination finds dorsal scoliosis, deformities of the long bones, blue staining of the sclerae. Radiography showed diffuse bone hypertransparency, thinned cortices and curvature of the long bones. Osteoporosis with a Z-score of -3.8 DS in the spine and -3.1 DS in the femur on bone densitometry (BMD). The patient received 20 courses of pamidronic acid at a dose of 07 mg/kg/year with good clinical (decrease in the number of fractures) and osteodensitometric improvement and good tolerance. Observation 2: Mr D.A, 16 years old, without any particular pathological atcd, the onset of the disorders goes back to the age of 13 years marked by the installation of repeated fractures following minimal trauma. The patient presents with growth retardation, deformities of the long bones and blue sclera. Radiography showed diffuse bone hypertransparency, thinned cortices, curvature of the long bones with bilateral coxa profonda. BMD showed osteoporosis with a Z score of -4.8DS. He was treated with pamidronic acid at 07 mg/kg/year (09 courses) with satisfactory improvement and good tolerance. Observation 3: Mr A.N aged 41 years with no particular pathological atcd. The history of the disease shows repeated low-energy fractures (06 fractures) since the age of 11 years. On clinical examination, there is an exaggerated kyphosis, blue sclera and bilateral hearing loss on the right. On imaging, diffuse bone hypertransparency, thinned cortices, curvature of the long bones and right acetabular protrusion were noted. On BMD, osteoporosis with a Z-score of -4.0 DS at the spine and femur. The patient received zoledronic acid 04 mg/ 06 months. The patient improved well with a decrease in the number of fractures and an improvement in bone densitometry. Observation 4: Mrs B.Z aged 40 years without any particular pathological atcd, having made iterative low energy fractures since the age of 01 month (05 fractures). The patient presents a dorsal scoliosis, deformations of the long bones, growth retardation, blue sclera and translucent teeth. The radiograph shows diffuse bone hypertransparency, thinned cortices and curvature of the long bones. BMD and adequate treatment were not done as the patient was lost to follow-up.

Conclusion
Osteogenesis imperfecta is a rare disease with a polymorphous clinical expression. Late diagnosis delays the initiation of adequate treatment and consequently the persistence of fractures. Bisphosphates improve bone mass and reduce the incidence of fractures and are generally well tolerated.
arthritis and systemic lupus erythematosus. When it occurs in individual <16 years, it is called juvenile scleroderma. It is a rare disease that occurs in one per million children, documented to be more common in African adults with poorer survival states compared with Caucasians. Objectives To describe the clinical and laboratory characteristics of children with juvenile scleroderma seen in our clinic, thus, increasing its awareness.

Methods
Retrospective review of records of three children diagnosed with juvenile scleroderma at the paediatric Rheumatology Clinic of Lagos State University Teaching Hospital(LASUTH) between May 2018 to April 2022.

Results
Case 1 A 12-year-old girl presented with skin tightness of the left hand and thigh of one year, contracture of the 3 rd , 4 th and 5 th proximal interphalangeal joints, arthritis of the left wrist, skin induration of the dorsum of the left hand involving the 4 th and 5 th finger and extending to the wrist and skin and induration of the anterolateral aspect of the left thigh. Her blood tests showed an erythrocyte sedimentation rate (ESR) at 20 mm/h, an ANA titre of 1:2560, a negative anti-Scl 70/anticentromere antibodies, a normal complete blood count and serum electrolytes/urea/creatinine. A diagnosis of linear scleroderma was made, the patient had prednisolone, methotrexate and folic acid, in addition to topical emollients. She improved clinically as observed during follow up visits six weeks after initiation of treatment but later defaulted from the clinic due to unknown reason. Case 2 A 4-year-old girl presented with constitutional symptoms, swollen hands and feet, sclerodactyly, narrowing of oral aperture, ulcers at tips of the fingers, inflammatory pain of the large joints, hypopigmented macules on the face, trunk, abdomen and back and also abnormal capillaroscopy. Erythrocyte sedimentation rate was 22 mm/h with normal levels of electrolytes/urea/creatinine, thrombocytosis, ANA titre of 1:640 and negative anti-centromere and anti-U1RNP antibodies. A diagnosis of diffuse systemic sclerosis was made. She started prednisolone, methotrexate, nifedipine and omeprazole and was asked to do an ECG, an Echocardiogram, a spirometry and a chest HRCT but she couldn't afford to do these investigations due to severe financial constraints. She was clinically stable for four months until she presented at the emergency room with sudden loss of consciousness and congestive cardiac failure. She died during resuscitation attempt.

Case 3
An 11-year-old girl known patient of haematology unit with sickle cell anaemia, presented with inflammatory arthritis of the small joints of the hands, elbows and knees of nine-month duration, sclerodactyly, contractures of the PIP of the fingers, narrowing of oral aperture, generalized hypopigmented macules and abnormal nailfold capillaroscopy. Investigation showed an ANA titre of 1:640, positive anti-Scl 70 antibodies, negative anti-centromere antibodies, ESR of 130 mm/h and thrombocytosis. The echocardiogram showed a normally structured heart with severe restriction on spirometry and features of interstitial lung disease on HRCT of the chest. She started mycophenolate mofetil, prednisolone and nifedipine. She later received 2 doses of rituximab due to slow clinical improvement. She is being followed up.

Conclusion
Most data on scleroderma are from adult studies, we reported these three cases due to the rare occurrence of scleroderma in children, thus increasing its awareness.

Observation
We report a case of a term neonate presenting with oral and genital ulcerations appeared at the age of 7 days. The mother had a history of Behç et's disease and antiphospholipid antibody syndrome (APLS) diagnosed at the age of 20 years, characterized by severe recurrent orogenital ulceration and complicated by thrombophlebitis and mycocarditis. She was treated with colchicine, corticoids during the attacks and an antiplatelet treatment. Also, the siblings of the neonate (2 sisters and one brother) had the same symptoms in the neonatal period and developed disfiguring scars since they were treated as herpes by antiviral therapy. Family history, clinical course and negative laboratory results, suggest the diagnosis of transient neonatal BD. The treatment with systemic and local corticoids was effective. The neonate didn't develop scars, neurological or vascular symptoms. The antibodies anti-nuclear and HLAB51 were negative. Conclusion Transient neonatal Behç et's disease (BD) is a rare secondary neonatal autoimmune condition. The transmission from mother to fetus is still unclear. It is thought to be transmitted by an immune mechanism. However, the causative antibodies for neonatal BD have not been identified. Corticosteroid is recommended after diagnosis in order to avoid scars

Background
Myositis comprises of a large group of inflammatory muscle conditions characterized by muscle pain and weakness including but not limited to juvenile dermatomyositis and post viral myositis. Juvenile dermatomyositis (JDM) is a systemic capillary vasculopathy characterized by proximal muscle weakness, skin and systemic manifestations. Post viral myositis is a condition characterized by acute onset of muscle pain, tenderness and weakness which occurs shortly after a viral illness. Both these conditions have been categorized as rare and literature is scarce in Sub Saharan Africa. Objective To describe the clinical profile of patients with myositis in our setting.

Methods
Retrospective chart review of children presenting with myositis attending the pediatric rheumatology clinic at AKUH, Nairobi, Kenya. Results A total of 8 cases were reviewed, 5 males and 3 females with a median age of 8 years who presented between 2017 and 2022. Four had post viral myositis (male to female ratio 3:1) and four had JDM (male to female ratio 1:1). All patients with post viral myositis presented with difficulty walking, calf pain, history of an upper respiratory tract illness 2 weeks prior and laboratory findings of elevated creatinine kinase (CK). They were managed with analgesics and all had spontaneous resolution of symptoms within a month of presentation. The patients with JDM all presented with skin lesions and muscle weakness. All 4 had gottrons papules, 2 had a heliotrope rash and 1 developed calcinosis while on follow up. Only one had elevated level of CK. Antinuclear antibodies were positive in two of three patients tested. Myositis profile done in 2 of the patients showed positive anti-TIF1 antibodies in one while the other tested positive for anti-RO-52 antibodies and anti-NXP2 antibodies. Three patients had significant findings on echocardiography including mild aortic, tricuspid and mitral regurgitation, mitral stenosis and mitral valve prolapse. All the patients had a normal ejection fraction. Two patients had features of interstitial lung disease. One of the patients was in critical care for 3 months where he was pulsed with methylprednisone before transfer to an alternative facility where he eventually passed on. Two of the patients are on follow up at the clinic, receiving methotrexate and mycophenolate mofetil respectively in addition to prednisone. They have both had improvement of symptoms evidenced by an increase in the Childhood Myositis Assessment Score (CMAS) from 17 to 33 in 6 weeks and 41-52 in 6 months respectively. One of the patients was lost to follow up due to financial constraints. Conclusion JDM and post viral myositis are not uncommon and risk being misdiagnosed especially in resource constrained environments. It is important for clinicians to be aware of the clinical presentation so as to develop a high index of suspicion hence prompting appropriate and timely care. Close follow up and counselling in appropriate clinics are crucial in the management of these patients but this may be a challenge due to financial constraints